CCDC177


Description

The CCDC177 (coiled-coil domain containing 177) is a protein-coding gene located on chromosome 14.

CCDC177, also known as Coiled-Coil Domain Containing 177, is a human protein encoded by the CCDC177 gene. It is characterized by a coiled helical domain that constitutes half of its structure. Deletions within the CCDC177 gene have been linked to intellectual disability and congenital heart defects. The gene resides on chromosome 14 at position 14q24.1 and comprises 2 exons. It belongs to the CCDC gene family, which encompasses proteins involved in signal transduction and transcription. Other aliases for the CCDC177 gene include C14orf162 and PLPL (Myelin Proteolipid Protein-Like Protein). CCDC177 has one variant that encodes Isoform 1 in humans. The mRNA sequence for this variant spans 4,182 base pairs, with both exons present, although the coding region is confined to Exon 2. Human CCDC177 Isoform 1 comprises 707 amino acids and has a predicted molecular weight of 80 kDa.

CCDC177 is also known as C14orf162, PLPL.

Associated Diseases



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